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Results 11-20 of 25 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1997Novel Mutations in Sanfilippo A Syndrome : Implications For Enzyme FunctionWeber, B.; Guo, X.H.; Wraith, J.; Cooper, A.; Kleijer, W.; Bunge, S.; Hopwood, J.
1995Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locusNancarrow, J.; Holman, K.; Hori, T.; Denton, M.; Sutherland, G.; Richards, R.
1997Molecular defects in Sanfilippo syndrome type ABlanch, L.; Weber, B.; Guo, X.H.; Scott, H.; Hopwood, J.
1997Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeatYu, S.; Mangelsdorf, M.; Hewett, D.; Hobson, L.; Baker, E.; Eyre, H.; Lapsys, N.; Le Paslier, D.; Doggett, N.; Sutherland, G.; Richards, R.
1996Positional cloning of the Fanconi anaemia group A geneApostolou, S.; Whitmore, S.; Crawford, J.; Lennon, G.; Sutherland, G.; Callen, D.; Ianzano, L.; Savino, M.; d'Apolito, M.; Notarangelo, A.; Memeo, E.; Piemontese, M.; Zelante, L.; Savoia, A.; Gibson, R.; Tipping, A.; Morgan, N.; Hassock, S.; Jansen, S.; de Ravel, T.; et al.
1998FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesisHewett, D.; Handt, O.; Hobson, L.; Mangelsdorf, M.; Eyre, H.; Baker, E.; Sutherland, G.; Schuffenhauer, S.; Mao, J.I.; Richards, R.
1995A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsySteinlein, O.; Mulley, J.; Propping, P.; Wallace, R.; Phillips, H.; Sutherland, G.; Scheffer, I.; Berkovic, S.
1997Monitoring Minimal Residual Disease in Peripheral Blood in B-Lineage Acute Lymphoblastic LeukaemiaBrisco, M.; Sykes, P.; Hughes, E.; Dolman, G.; Neoh, S.; Peng, L.; Toogood, I.; Morley, A.
1995Molecular cloning of the cDNA encoding human skeletal muscle triadin and its localisation to chromosome 6q22-6q23Taske, N.; Eyre, H.; O'Brien, R.; Sutherland, G.; Denborough, M.; Foster, P.
1995Optimal polymerase chain reaction amplification for preimplantation diagnosis in cystic fibrosis (∆F508)Cui, K.H.; Haan, E.; Wang, L.J.; Matthews, C.

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